RGD:127249133 Rat Genome Database

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Variant: RGD:127249133 -  Homo sapiens

RGD ID: 127249133
RS ID: rs2112054627
ClinVar ID: CV1055531
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 80,109,561
GRCh38 5 80,813,742
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002439.5:c.2813+1G>A
NG_016607.2:g.164268G>A
NC_000005.10:g.80813742G>A
NC_000005.9:g.80109561G>A
More... 		07/23/2020 splice donor variant likely pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MSH3
Accession:NM_002439
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001378094 CLINVAR
  RCV002438883 CLINVAR
  RCV003458675 CLINVAR
dbSNP (RS) rs2112054627 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4310719 CLINVAR
NCBI Gene MSH3 CLINVAR
OMIM 600887 CLINVAR
  617100 CLINVAR
SNOMED CT 699346009 CLINVAR